F46L (p.Phe46Leu) variant of SOD1 (Superoxide dismutase [Cu-Zn])
F46L (p.Phe46Leu) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
F46L (p.Phe46Leu) variant details
- p.Phe46Leu
- gnomAD 21-31663855-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.91
- MetaLR 0.99
- MetaSVM 1.01
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available